Doctors at UT Southwestern Medical Center have developed a system to identify genetic anomalies connected with a childhood cancer, a step toward developing treatment as well as discovering genetic influences on other cancers.
The exact role the anomalies play in contributing to the cancer is still hazy, but UT Southwestern says the experimental system can help researchers begin to decipher the meaning.
The process involves predicting which genes might be associated with the cancer using Bayesian inference, a statistical technique for measuring probability, and verifying these predictions by isolating genes through Crispr-Cas9, a gene-editing tool.
After analyzing data from 290 rhabdomyosarcoma tumors, the researchers identified 29 genes that could contribute to the cancer, which typically affects patients under 18 years old. Many of these genes had not been linked to rhabdomyosarcoma before.
Rather than resulting from just one genetic mutation, some cancers have a dozen associated genes. The rhabdomyosarcoma-associated genes the researchers identified may not be causing the cancer, but they could be making it worse.
The system could prove useful in predicting the strength of a cancer. Discovering cancer-connected genes could become a new biomarker for how aggressive a cancer could become, says Dr. Stephen Skapek, chief of the division of pediatric hematology-oncology at UT Southwestern.
“Instead of focusing on genes with mutations, we looked at genes with an increased number of copies,” he says. “Most genes in normal cells are only present in two copies. In this type of cancer, many of the genes had increased numbers of copies: Instead of two, there might be four or six. People have recognized for a long time that those copy alterations may be important.”
The research method could be applied elsewhere, discovering gene duplications linked to other cancers.
Dr. Yanbin Zheng, assistant professor of pediatrics at UT Southwestern, said in a statement that several of the genes he and his fellow researchers discovered deserve further attention.
